Dr. Öğr. Üyesi CEREN DAMLA DURMAZ ÖZDİNÇ

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease

Bas H., DURMAZ ÖZDİNÇ C. D., Tombak M. C., ÇETİN G. O., Karaer K.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.9, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma

Novel nonsense CAST mutation in two siblings with PLACK syndrome

DURMAZ ÖZDİNÇ C. D., Tekmenuray-Unal A.

International Journal of Dermatology , cilt.62, sa.10, ss.1295-1299, 2023 (SCI-Expanded)

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)

Ili E. G., Tasdelen E., Durmaz C. D., ALTINER Ş., TUNCALI T., Martinez-Glez V., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.188, sa.6, ss.1792-1800, 2022 (SCI-Expanded)

Undifferentiated Melanoma Resembling Undifferentiated Round Cell Sarcoma: The Diagnostic Power of Molecular Melanoma Signature

KAVUNCUOĞLU A., DURMAZ ÖZDİNÇ C. D., GÖKÖZ Ö., ÜNER A., KÖSEMEHMETOĞLU K.

INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY , cilt.30, sa.3, ss.346-349, 2022 (SCI-Expanded)

Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency

Durmaz C. D., ALTINER Ş., Tasdelen E., KARABULUT H. G., ILGIN RUHİ H.

FETAL AND PEDIATRIC PATHOLOGY , cilt.40, sa.5, ss.486-492, 2021 (SCI-Expanded)

MASP1-related 3MC syndrome in a patient from Turkey

Durmaz C. D., Altiner S.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.7, ss.2267-2270, 2021 (SCI-Expanded)

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A > C(c.1957-2A > C) Mutation in the GLI2 Gene

Demiral M., DEMİRBİLEK H., Unal E., Durmaz C. D., Ceylaner S., Ozbek M. N.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , cilt.12, sa.3, ss.319-328, 2020 (SCI-Expanded)

Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa

Ertop P., Vural S., Ili E. G., Durmaz C. D., HEPER A., McGrath J. A., et al.

INTERNATIONAL JOURNAL OF DERMATOLOGY , cilt.59, sa.7, ss.851-855, 2020 (SCI-Expanded)

H syndrome: a genodermatosis characterised by hyperpigmented, and hypertrichotic skin

An I., Durmaz C. D., ILGIN RUHİ H., Ertop P., Ozturk M., Sula B., et al.

HONG KONG JOURNAL OF DERMATOLOGY & VENEREOLOGY , cilt.27, sa.3, ss.137-140, 2019 (SCI-Expanded)

Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study

VURAL S., Gundogdu M., Illi E. G., Durmaz C. D., Vural A., Steinmuller-Magin L., et al.

BRITISH JOURNAL OF DERMATOLOGY , cilt.180, sa.6, ss.1459-1467, 2019 (SCI-Expanded)

Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings

USLU YURTERİ E., Durmaz C. D., KARABULUT H. G., Seifert W., Horn D., AKKAYA Z., et al.

CYTOGENETIC AND GENOME RESEARCH , cilt.158, sa.3, ss.126-132, 2019 (SCI-Expanded)

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

White J. J., Mazzeu J. F., Coban-Akdemir Z., Bayram Y., Bahrambeigi V., Hoischen A., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.102, sa.1, ss.27-43, 2018 (SCI-Expanded)

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome

Durmaz C. D., Evans G., Smith M. J., Ertop P., AKAY B., TUNCALI T.

CYTOGENETIC AND GENOME RESEARCH , cilt.154, sa.2, ss.57-61, 2018 (SCI-Expanded)

A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report

Durmaz C. D., McGrath J., Liu L., KARABULUT H. G.

CYTOGENETIC AND GENOME RESEARCH , cilt.154, sa.3, ss.119-121, 2018 (SCI-Expanded)

Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature

Tasdelen E., Durmaz C. D., KARABULUT H. G.

CYTOGENETIC AND GENOME RESEARCH , cilt.154, sa.4, ss.181-186, 2018 (SCI-Expanded)

Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene

Vural S., Ertop P., Durmaz C. D., ŞANLI H., HEPER A., KUNDAKCI N., et al.

CYTOGENETIC AND GENOME RESEARCH , cilt.151, sa.4, ss.186-190, 2017 (SCI-Expanded)

Bilateral choanal atresia in an adult woman with pycnodysostosis

Durmaz C. D., Tas V., Kocaay P., FİTOZ Ö. S., Onay H., BETON S., et al.

CONGENITAL ANOMALIES , cilt.57, sa.3, ss.91-92, 2017 (SCI-Expanded)

Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report

Durmaz C. D., Yararbas K., KUTLAY N., Turedi O., Akin I., Gurbuz C., et al.

CYTOGENETIC AND GENOME RESEARCH , cilt.148, sa.1, ss.19-24, 2016 (SCI-Expanded)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Long overdue diagnosis for Turner syndrome: evaluation of two cases

ILGIN RUHİ H., Durmaz C. D., LEBLEBİCİ C. B., ALTINER Ş.

56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.245-246

Comprehensive approach focusing on the molecular profile of a rare genodermatosis: Epidermodysplasia Verruciformis

ERKAN D. D., Akcin O., DURMAZ ÖZDİNÇ C. D., ATEŞ ÖZDEMİR D., GÜLERAY LAFCI N., DİZDAR Ö.

56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.397

Pyrin mutations in complex hidradenitis suppurativa

Vural S., Gundogdu M., Ili E. G., Durmaz C. D., Vural A., Steinmueller-Magin L., et al.

Annual Meeting of the British-Society-for-Investigative-Dermatology, Bradford, İngiltere, 1 - 03 Nisan 2019, cilt.180

Metrikler

Yayın

Atıf (WoS)

119

H-İndeks (WoS)

Atıf (Scopus)

118

H-İndeks (Scopus)

Proje

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

Yayınlar & Eserler